William's Syndrome Flashcards

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1
Q

What is aortic stenosis?

A

Narrowing of the arteries of the heart

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2
Q

What is a hemizygous condition?

A

The problem is one chromosome rather than 2

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3
Q

What causes William’s syndrome?

A

Deletion of the 26th and 28th gene on the 7th chromosome (hemizygous deletion of chromosome 7q11.23)

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4
Q

What is the prevalence of William’s Syndrome?

A

1 in 7500

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5
Q

What are the 3 main features of William’s Syndrome?

A

Aortic Stenosis, Learning Difficulties, Distinct Facial Features

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6
Q

What are the main neural differences in William’s Syndrome?

A

The total brain matter is significantly reduced, especially in the occipital grey matter (some believe this affects processing of risk and emotional regulation)

However the amygdala and prefrontal cortex have greater grey matter volume than controls

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7
Q

What are the main cognitive features of people with William’s Syndrome?

A

Mild/moderate learning disability
Mean IQ 50-60
Poor visuospatial processing
Relative strengths in language, facial processing, and musical ability

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8
Q

Though William’s Syndrome involves many cognitive deficits, what relative cognitive strengths does it involve?

A

Word Fluency
Phonological short-term memory
Grammatical Ability
Pragmatic Ability (i.e. picking up context and sarcasm)
Reciprocal conversation

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9
Q
A
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